Charcot-Marie-Tooth disease type 2B1

A Charcot-Marie-Tooth disease type 2 that has_material_basis_in homozygous mutation in the lamin A/C gene (LMNA) on chromosome 1q22.

Signs and symptoms

• Hyporeflexia
• Axonal degeneration/regeneration
• Kyphoscoliosis
• Steppage gait
• Decreased motor nerve conduction velocity
• Pes cavus
• Distal amyotrophy
• Upper limb muscle weakness
• Onion bulb formation
• Areflexia

Also known as: CMT2B1; Charcot-Marie-Tooth disease neuronal type 2B1; Charcot-Marie-Tooth neuropathy type 2B1; autosomal recessive Charcot-Marie-Tooth disease type 2B1; autosomal recessive axonal CMT4C1